Analysis of the molecular function of a novel autism susceptibility gene AUTS2 in cerebellar development

本研究揭示了一个新的自闭症易感基因Auts2，其功能尚不清楚，作为Rho家族小G蛋白Rac 1和Cdc 42的上游肌动蛋白细胞骨架调节剂，是调节CNS发育中神经元迁移和神经突形成等多个事件的重要因子。在社会行为测试实验中，Auts2基因敲除小鼠与野生型小鼠相比表现出孤独症行为，提示本研究建立的Auts2基因敲除小鼠将有助于开发新的诊断和治疗自闭症等精神疾病的方法。

In this study, It has been revealed that a novel autism susceptibility gene Auts2, which functions have been unknown, works as an actin cytoskeleton regulator working as a upstream of Rho family small GTPase Rac1 and Cdc42, and is important factor for regulating multiple events including neuronal migration and neurite formation in CNS development. In the experiments of social behavior test, Auts2 knockout mice showed the autistic behavior compared with wild type mice, suggesting that the Auts2 KO mice established in this study would be useful for the development of new diagnosis and therapy on psychiatric disorders such as autism.